ERLIN2

ER lipid raft associated 2
Identifiers
Symbols	ERLIN2 ; C8orf2; Erlin-2; NET32; SPFH2; SPG18
External IDs	OMIM: 611605 MGI: 2387215 HomoloGene: 5193 GeneCards: ERLIN2 Gene
Gene ontology Molecular function • protein binding • cholesterol binding • ubiquitin protein ligase binding Cellular component • cytoplasm • endoplasmic reticulum • endoplasmic reticulum membrane • plasma membrane • integral component of membrane • protein complex • membrane raft • extracellular exosome Biological process • cholesterol metabolic process • ER-associated ubiquitin-dependent protein catabolic process • SREBP signaling pathway • negative regulation of cholesterol biosynthetic process • negative regulation of fatty acid biosynthetic process Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	11160	244373
Ensembl	ENSG00000147475	ENSMUSG00000031483
UniProt	O94905	Q8BFZ9
RefSeq (mRNA)	NM_001003790	NM_153592
RefSeq (protein)	NP_001003790	NP_705820
Location (UCSC)	Chr 8: 37.74 – 37.76 Mb	Chr 8: 27.02 – 27.04 Mb
PubMed search

Erlin-2 is a protein that in humans is encoded by the ERLIN2 gene.^[1][2][3][4]

Model organisms

Model organisms have been used in the study of ERLIN2 function. A conditional knockout mouse line called Erlin2^{tm1a(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute.^[5] Male and female animals underwent a standardized phenotypic screen^[6] to determine the effects of deletion.^{[7][8][9][10]} Additional screens performed: - In-depth immunological phenotyping^[11]

Erlin2 knockout mouse phenotype

Characteristic	Phenotype
All data available at.[6][11]
Peripheral blood leukocytes 6 Weeks	Normal
Insulin	Normal
Haematology 6 Weeks	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Normal
Auditory brainstem response	Normal
DEXA	Normal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Abnormal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Normal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Normal
Spleen Immunophenotyping	Normal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Normal
Influenza Challenge	Normal

References

1. Ikegawa S, Isomura M, Koshizuka Y, Nakamura Y (Oct 1999). "Cloning and characterization of a novel gene (C8orf2), a human representative of a novel gene family with homology to C. elegans C42.C1.9". Cytogenetics and Cell Genetics 85 (3-4): 227–31. doi:10.1159/000015298. PMID 10449903.
2. Garcia MJ, Pole JC, Chin SF, Teschendorff A, Naderi A, Ozdag H, Vias M, Kranjac T, Subkhankulova T, Paish C, Ellis I, Brenton JD, Edwards PA, Caldas C (Aug 2005). "A 1 Mb minimal amplicon at 8p11-12 in breast cancer identifies new candidate oncogenes". Oncogene 24 (33): 5235–45. doi:10.1038/sj.onc.1208741. PMID 15897872.
3. Browman DT, Resek ME, Zajchowski LD, Robbins SM (Aug 2006). "Erlin-1 and erlin-2 are novel members of the prohibitin family of proteins that define lipid-raft-like domains of the ER". Journal of Cell Science 119 (Pt 15): 3149–60. doi:10.1242/jcs.03060. PMID 16835267.
4. "Entrez Gene: ERLIN2 ER lipid raft associated 2".
5. Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
6. "International Mouse Phenotyping Consortium".
7. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
8. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
9. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
10. White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (Jul 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
11. "Infection and Immunity Immunophenotyping (3i) Consortium".

Further reading

• Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
• Simpson JC, Wellenreuther R, Poustka A, Pepperkok R, Wiemann S (Sep 2000). "Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing". EMBO Reports 1 (3): 287–92. doi:10.1093/embo-reports/kvd058. PMC 1083732. PMID 11256614.
• Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S (Sep 2004). "Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions". Genome Research 14 (9): 1711–8. doi:10.1101/gr.2435604. PMC 515316. PMID 15342556.
• Pearce MM, Wang Y, Kelley GG, Wojcikiewicz RJ (Jul 2007). "SPFH2 mediates the endoplasmic reticulum-associated degradation of inositol 1,4,5-trisphosphate receptors and other substrates in mammalian cells". The Journal of Biological Chemistry 282 (28): 20104–15. doi:10.1074/jbc.M701862200. PMID 17502376.